| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.53605526C>G | CA395921201 | RPGRIP1L | c.3550G>C (p.Asp1184His) n.4214G>C c.3652G>C (p.Asp1218His) c.3790G>C (p.Asp1264His) c.*550G>C (n.*550G>C) n.1562G>C c.3688G>C (p.Asp1230His) c.3664G>C (p.Asp1222His) c.1897G>C (p.Asp633His) c.3802G>C (p.Asp1268His) c.3562G>C (p.Asp1188His) c.2035G>C (p.Asp679His) | dbSNP |
| 16 | g.53605526C>T | CA150948 | RPGRIP1L | c.3550G>A (p.Asp1184Asn) n.4214G>A c.3652G>A (p.Asp1218Asn) c.3790G>A (p.Asp1264Asn) c.*550G>A (n.*550G>A) n.1562G>A c.3688G>A (p.Asp1230Asn) c.3664G>A (p.Asp1222Asn) c.1897G>A (p.Asp633Asn) c.3802G>A (p.Asp1268Asn) c.3562G>A (p.Asp1188Asn) c.2035G>A (p.Asp679Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |